(used for variant description)
(last modified June 29, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_006147.3 in the IRF6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007081.2, covering IRF6 transcript NM_006147.3.
(upstream sequence)
g.5004
ggat c.-301
. . . . . . g.5064
gcgaaggctgcggcgtcctggggcgaggcgctgacgtgagctcggcgcacctgggctggg c.-241
. . . . . . g.5124
caggtaagggctggtgcgggacggggagaggaacctgcagtccctacttgggtagagcca c.-181
. . . . . . g.5184
ggcgccccttggctaagacgtcgaggagcgtggtagcgacgggtgatcttcgctgcggac c.-121
. . . . . | 02 . g.9147
ttggttcggagggacgtccgcttctggtggacagattgagcaaag | aatctttgagcggtc c.-61
. . . . . . | 03 g.9762
aagggaaagacaagccgactcttcagatccctgtggacacactgcctgctcttccat | atc c.-1
. . . . . . g.9822
ATGGCCCTCCACCCCCGCAGAGTCCGGCTAAAGCCCTGGCTGGTGGCCCAGGTGGATAGT c.60
M A L H P R R V R L K P W L V A Q V D S p.20
. . . . . . g.9882
GGCCTCTACCCTGGGCTCATCTGGCTACACAGGGACTCTAAACGCTTCCAGATTCCCTGG c.120
G L Y P G L I W L H R D S K R F Q I P W p.40
. . . . . | 04 . g.14629
AAACATGCCACCCGGCATAGCCCTCAACAAGAAGAGGAAAATACCATTTTTAAG | GCCTGG c.180
K H A T R H S P Q Q E E E N T I F K | A W p.60
. . . . . . g.14689
GCTGTAGAGACAGGGAAGTACCAGGAAGGGGTGGATGACCCTGACCCAGCTAAATGGAAG c.240
A V E T G K Y Q E G V D D P D P A K W K p.80
. . . . . . g.14749
GCCCAGCTGCGCTGTGCTCTCAATAAGAGCAGAGAATTCAACCTGATGTATGATGGCACC c.300
A Q L R C A L N K S R E F N L M Y D G T p.100
. . . . . . g.14809
AAGGAGGTGCCCATGAACCCAGTGAAGATATATCAAGTGTGTGACATCCCTCAGCCCCAG c.360
K E V P M N P V K I Y Q V C D I P Q P Q p.120
. | 05 . . . . g.15798
GGCTCGATCATTAACCCAG | GATCCACAGGGTCTGCTCCCTGGGATGAGAAGGATAATGAT c.420
G S I I N P G | S T G S A P W D E K D N D p.140
. . . . . . g.15858
GTGGATGAAGAAGATGAGGAAGATGAGCTGGATCAGTCGCAGCACCATGTTCCCATCCAG c.480
V D E E D E E D E L D Q S Q H H V P I Q p.160
. . | 06 . . . g.18780
GACACCTTCCCCTTCCTGAACATCAATG | GTTCTCCCATGGCGCCAGCCAGTGTGGGCAAT c.540
D T F P F L N I N G | S P M A P A S V G N p.180
. . . . . . g.18840
TGCAGTGTGGGCAACTGCAGCCCGGAGGCAGTGTGGCCCAAAACTGAACCCCTGGAGATG c.600
C S V G N C S P E A V W P K T E P L E M p.200
. . . . . . g.18900
GAAGTACCCCAGGCACCTATACAGCCCTTCTATAGCTCTCCAGAACTGTGGATCAGCTCT c.660
E V P Q A P I Q P F Y S S P E L W I S S p.220
| 07. . . . . . g.20341
CTCCCAA | TGACTGACCTGGACATCAAGTTTCAGTACCGTGGGAAGGAGTACGGGCAGACC c.720
L P M | T D L D I K F Q Y R G K E Y G Q T p.240
. . . . . . g.20401
ATGACCGTGAGCAACCCTCAGGGCTGCCGACTCTTCTATGGGGACCTGGGTCCCATGCCT c.780
M T V S N P Q G C R L F Y G D L G P M P p.260
. . . . . . g.20461
GACCAGGAGGAGCTCTTTGGTCCCGTCAGCCTGGAGCAGGTCAAATTCCCAGGTCCTGAG c.840
D Q E E L F G P V S L E Q V K F P G P E p.280
. . . . . . g.20521
CATATTACCAATGAGAAGCAGAAGCTGTTCACTAGCAAGCTGCTGGACGTCATGGACAGA c.900
H I T N E K Q K L F T S K L L D V M D R p.300
. . . . . . g.20581
GGACTGATCCTGGAGGTCAGCGGTCATGCCATTTATGCCATCAGGCTGTGCCAGTGCAAG c.960
G L I L E V S G H A I Y A I R L C Q C K p.320
. . . . . . g.20641
GTGTACTGGTCTGGGCCATGTGCCCCATCACTTGTTGCTCCCAACCTGATTGAGAGACAA c.1020
V Y W S G P C A P S L V A P N L I E R Q p.340
. . . . | 08 . . g.21410
AAGAAGGTCAAGCTATTTTGTCTGGAAACATTCCTTAGCG | ATCTCATTGCCCACCAGAAA c.1080
K K V K L F C L E T F L S D | L I A H Q K p.360
. . . . . . g.21470
GGACAGATAGAGAAGCAGCCACCGTTTGAGATCTACTTATGCTTTGGGGAAGAATGGCCA c.1140
G Q I E K Q P P F E I Y L C F G E E W P p.380
. . . | 09 . . g.22552
GATGGGAAACCATTGGAAAGGAAACTCATCTTGGTTCAG | GTCATTCCAGTAGTGGCTCGG c.1200
D G K P L E R K L I L V Q | V I P V V A R p.400
. . . . . . g.22612
ATGATCTACGAGATGTTTTCTGGTGATTTCACACGATCCTTTGATAGTGGCAGTGTCCGC c.1260
M I Y E M F S G D F T R S F D S G S V R p.420
. . . . . . g.22672
CTGCAGATCTCAACCCCAGACATCAAGGATAACATCGTTGCTCAGCTGAAGCAGCTGTAC c.1320
L Q I S T P D I K D N I V A Q L K Q L Y p.440
. . . . . . g.22732
CGCATCCTTCAAACCCAGGAGAGCTGGCAGCCCATGCAGCCCACCCCCAGCATGCAACTG c.1380
R I L Q T Q E S W Q P M Q P T P S M Q L p.460
. . g.22756
CCCCCTGCCCTGCCTCCCCAGTAA c.1404
P P A L P P Q X p.467
. . . . . . g.22816
ttgtgaatgccatcttcttccttctcttttttataatattgtacatatggatttttttat c.*60
. . . . . . g.22876
tgtttagatttaaccagcttttaaatctctcttttctctaacagtgttagaagtttgtga c.*120
. . . . . . g.22936
ttctccaaatatgcctagatttaaagctgatttaatttatggaaaaatcacccttcagac c.*180
. . . . . . g.22996
tttgcttttctttttcaaatctcctaatggtagtatgatatagcatagtagaaggagatt c.*240
. . . . . . g.23056
tggcctgggagtttggacaccaaagttctagctgcagctttgcttccaatgtgaccttga c.*300
. . . . . . g.23116
acaagtcctttaacctctgggcttcagatttattgcttataaagtgaagagattggagta c.*360
. . . . . . g.23176
gtgcctgaaattgcatccagctttagaacggactcaatgaccttcttctacttgtacaag c.*420
. . . . . . g.23236
gctaaactgcctggaacagaatccttctgcattgttcttgtaccacatttttccttggtt c.*480
. . . . . . g.23296
ttgttaaagtttcctcaagcactgatttgtccaggatcgagctctgtttgacctgttctg c.*540
. . . . . . g.23356
ctagtatagtaagctggctccctgatgggggaagtgagagggagaggagctggctggctg c.*600
. . . . . . g.23416
gttgcttagaaactatgcttgatatctaaatagaaatgggtgccaaagtctgaaagtcac c.*660
. . . . . . g.23476
ccagcctgtggagtgaaagctcacaaatttggcttctaaagggaagctgttgacacagaa c.*720
. . . . . . g.23536
agcctagggattctgtggaagaataggttgtcaggcatttaccttattaccactcaaata c.*780
. . . . . . g.23596
ccagtgtgtgtgtgttgggggggcggcagggagagggggtaggtgacagtatgtgactca c.*840
. . . . . . g.23656
ggtgttagctttaagaggaaagagctctatttttcttgttttcttctctgagctagactg c.*900
. . . . . . g.23716
agctggggatctaagatgtacttctctgactacaaaagggacagtatcatttagattttt c.*960
. . . . . . g.23776
tgcagttggaagaaatgggttgttgagtgtgttaaggctgggatgaagaagggctgggca c.*1020
. . . . . . g.23836
gtactcttctggaaaggctcacctagcacgaacctgcttgtctcccttactagtggaggt c.*1080
. . . . . . g.23896
atctgagtgtgaacagtgaaggtaaagagtggtatagaacaatgcagctgtatctgtcac c.*1140
. . . . . . g.23956
aaactggtcttatctagaaacatctgctgagtctctaaccctttcagctttctcttcttt c.*1200
. . . . . . g.24016
tttgagacagagtcttgctttgttgcccaggctggagtgcagtggcaagtcaccacttac c.*1260
. . . . . . g.24076
tgcagctttaagctcctgggctcaagcaatcgtcctgccccagcctcctgagtagttggg c.*1320
. . . . . . g.24136
acaacagtcgtgcactatgatgcttggctaattttttttttatttttgtagagatgaggt c.*1380
. . . . . . g.24196
cttgctatgttgcccaggctggtcttgaactcctgggctcaagcaatctgggacctaaat c.*1440
. . . . . . g.24256
ggcaaataagatgctaatctgtggttgcaagccccagtcctcttgaatagtgatgcctat c.*1500
. . . . . . g.24316
ctgtctgtgtcgggacatagtaaggaagcccatgtctagtctggtacctttaaaccaggc c.*1560
. . . . . . g.24376
catctccaacttttcaaaatgactcaaaagttgagctagccttattttaaaaactaaaag c.*1620
. . . . . . g.24436
ttcaaaatcagtggtgacatgaggacttatttatttaaagtgcttaagccttggttttag c.*1680
. . . . . . g.24496
agtttctaagagacctagtggaatttgctattatgaaaagcatgaaaagattaagaaacc c.*1740
. . . . . . g.24556
tggctaaaggtcaggtgcccagcttcgaggaaaagttgggcttttagggaccgggaagca c.*1800
. . . . . . g.24616
ttaaaggcacagaaactttacattttgggggtcattttgttgagtaggtgaagtgaggga c.*1860
. . . . . . g.24676
tttgggcttgatatttggctgccccatctctacgtgggaactcaaagttaaaaacccact c.*1920
. . . . . . g.24736
gtaggtaaattagaagggcagctcttgaatctgggccagtctatatcccttctgtgaagt c.*1980
. . . . . . g.24796
gctaacagccaggctatctgtagcctgggtgggagcccagataatgtgagctggtaaagg c.*2040
. . . . . . g.24856
gtattggaaaagtgccaagaaatgccaagcttttggttcgtaaccactataaaaagttta c.*2100
. . . . . . g.24916
tgaacatgtcagaggaatggatgagtgatttgtgaggtcttaactagataccccggtttc c.*2160
. . . . . . g.24976
ttccttgttttggcttcttttcagaatgccgggagagtacatgcagggattccatctaat c.*2220
. . . . . . g.25036
caccctcagcactctttctctggtcctgctggatagatttagatttcctttcttttttta c.*2280
. . . . . . g.25096
gggcctcagtctgctatctcctttggtggctaccaccactcactcccttgatatcttcta c.*2340
. . . . . . g.25156
ctcccttgccttcaccttgcttaagactgagaagggagttagattttgtcactagctctt c.*2400
. . . . . . g.25216
ctttttcctcactgtgtaccccaccaaacaagattagttcaagttaaaaagaacctactg c.*2460
. . . . . . g.25276
gaggtaaactgggagagcaagtgttggatctgggctggtccctttcccataaaattaggt c.*2520
. . . . . . g.25336
ccctggttgtatgttcccatagcaccccatacttcctctctcagaataatcatttccctt c.*2580
. . . . . . g.25396
gtaatgctcagcatccgcatcctgcttgactgcaaacttgctgaaggtagggactgtttg c.*2640
. . . . . . g.25456
tcttggacttcgctgccagtccttagaacagtgtctgggacacagtgtgttctcaaatat c.*2700
. . . . . . g.25516
ttgttgctggaataaatgaatgaactaaatcagtcttttagggatttactgttaaccacc c.*2760
. . . g.25553
atgggaaaattaaataaatgcggggaaggaaaacgtt c.*2797
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 10c
©2004-2014 Leiden University Medical Center